einstein (São Paulo). 09/Jun/2015;13(2):336-7.

Polymalformative syndrome with congenital heart defect

DOI: 10.1590/S1679-45082015AI2900

This is the case of a male newborn whose mother during pregnancy was treated with chloropromazine, topiramate and diazepam, but without any other relevant family history, especially related with congenital malformation. At 34 weeks of gestation, the fetus was diagnosed with transposition of the great arteries (TGA). He born at 37 weeks of gestation, his birth weight was 3,229g and Apgar score 1/7/8. After delivery the he was maintained on invasive ventilation. The postnatal confirmation of TGA was carried out with restrictive foramen ovale throughout Rashkind septostomy done within the 2 hours after birth, under E1 prostaglandin therapy. At 13 days after birth, arterial switch operation was performed without significant intercurrences. At birth we observed hypoplasia of right-sided hemifacial, microtia, absence of zigomatic arcade, mandible and maxillary hypoplasia (). Ophthalmology assessment highlighted slight ocular asymmetry. The chest radiography showed malformation of dorsal spine with hemivertebrae and fusion of ribs (). His renal echography did not reveal malformations. Based on these findings the diagnosis was hemifacial microsomia. We conducted a pluridisciplinary follow-up for surveillance of complications, early intervention and schedule of correction of facial malformation.

[…]